Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.F401S
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THRA

NM_199334.5:p.F401S

Associated Papers

What is the Role of Thyroid Hormone Receptor Alpha 2 (TRα2) in Human Physiology?

Paisdzior S et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2022

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.

Furman AE et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.

Paisdzior S et al.

International Journal of Molecular Sciences, 2021

34069457 (PubMed )
Supplement: ijms-22-05338-s001.zip › ijms-1156618-supplementary.pdf

The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults

Erbaş İM et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA /TRα1.

Sun H et al.

Journal of the Endocrine Society, 2019

CRISPR/Cas9 Editing of the Mouse Thra Gene Produces Models with Variable Resistance to Thyroid Hormone.

Markossian S et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients.

Kalikiri MK et al.

Autism Research : Official Journal of the International Society for Autism Research, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."